G55A (p.Gly55Ala) variant of NPC1 (O15118)
G55A (p.Gly55Ala) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
G55A (p.Gly55Ala) variant details
- p.Gly55Ala
- ExAC rs754920859
- gnomAD rs754920859
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.58
- CADD 21.60
- PolyPhen-2 0.09
- SIFT 0.14
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available